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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly av...

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Autores principales: Baxter, Joseph S., Johnson, Nichola, Tomczyk, Katarzyna, Gillespie, Andrea, Maguire, Sarah, Brough, Rachel, Fachal, Laura, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Brucker, Sara Y., Cai, Qiuyin, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L., Colonna, Sarah, Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Chi, García-Closas, Montserrat, García-Sáenz, José A., Ghoussaini, Maya, Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hatse, Sigrid, Hauke, Jan, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Hou, Ming-Feng, Ito, Hidemi, Iwasaki, Motoki, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Joseph, Vijai, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Keeman, Renske, Khusnutdinova, Elza, Kim, Sung-Won, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James V., Lambrechts, Diether, Larson, Nicole L., Larsson, Susanna C., Le Marchand, Loic, Lejbkowicz, Flavio, Li, Jingmei, Long, Jirong, Lophatananon, Artitaya, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Mayes, Rebecca, Menon, Usha, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Muranen, Taru A., Murphy, Rachel A., Nevanlinna, Heli, O’Brien, Katie M., Offit, Kenneth, Olson, Janet E., Olsson, Håkan, Park, Sue K., Park-Simon, Tjoung-Won, Patel, Alpa V., Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Rennert, Gad, Romero, Atocha, Ruebner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Toland, Amanda E., Tomlinson, Ian, Truong, Thérèse, Tseng, Chiu-Chen, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M.W., Wang, Sophia S., Weinberg, Clarice R., Wendt, Camilla, Winham, Stacey J., Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Zheng, Wei, Ziogas, Argyrios, Pharoah, Paul D.P., Dunning, Alison M., Easton, Douglas F., Pettitt, Stephen J., Lord, Christopher J., Haider, Syed, Orr, Nick, Fletcher, Olivia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8322933/
https://www.ncbi.nlm.nih.gov/pubmed/34146516
http://dx.doi.org/10.1016/j.ajhg.2021.05.013